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Cytogenetics Flashcards

1
Q

Chromatin

A

During interphase
Euchromatin
Heterochromatin

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2
Q

Chromosome composition

A 
Long arm (q)
Short arm (p)
Centromere
Secondary constriction
Satellite (role in nucleolus formation)
Telomeres
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3
Q

Position of centromere

A

Metacentric
Submetacentric
Acrocentric
Telocentric

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4
Q

Cytogenetics

A

Study of chromosome structure, number &its mutations

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5
Q

Mutation cause during meiosis

A

Incorrect chromosome separation (# change)

Chromosome breaking & wrong joining (structure change)

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6
Q

Mutations results

A 
Spontaneous abortion
Anomaly of growth
Disorder of organ development
Disorder of reproduction, that can lead to sterility
Disorder of immunity development
Mental retardation
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7
Q

Material for examination of chromosomes

A

Cells grown in vitroto increase number (fytohemaglutinin)
Mitosis stopped after 2-3 days in metaphase by mitotic inhibitor colchicine
Cells are lysed in hypotonic solution to release chromosomes
Chromosomes are stained, photographed & grouped

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8
Q

Fytohemaglutinin

A

Stimulates mitosis

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9
Q

Colchicine

A

Prevents mitotic spindle forming

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10
Q

Karyology

A

Study of whole sets of chromosomes - chromosomal aberrations & sex

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11
Q

Karyotype

A

Observed chromosome characteristics of individual or species

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12
Q

Karyogram, Idiogram

A

Format of chromosomes arranged in pairs, ordered by size & position of centromere

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13
Q

Methods of identification of chromosomes

A

Chromosome banding
FISH
multiplex FISH

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14
Q

Chromosome banding

A

G-banding

R-banding

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15
Q

G banding

A

Treatment of chromosome in metaphase stage with trypsin & stain them with Giemsa

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16
Q

Trypsin

A

Partially digest protein

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17
Q

Giemsa

A

Dark bands are A,T rich, gene poor

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18
Q

R-banding

A

Reverse to G-bands

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19
Q

FISH

A

Use of highly specific DNA proves which are hybridised to interphase or metaphase chromosomes

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20
Q

DNA probe + FISH method

A

Labeled with fluorescent or non fluroescent molecules which are then detected by fluorescent antiboides
Probes bind to a specific region on target chromosome
Chromosomes are stained using contrasting color & cells are viewed using fluorescence microscope

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21
Q

multiplex FISH

A

More differently colored DNA probes

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22
Q

Mutation

A

Change in genotype, that can be inherited

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23
Q

Spontaneous mutation

A

By mistake in DNA replication & reparation mechanism

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24
Q

Induced mutation

A

Induced by mutagens

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25
Q

Types of mutations

A

1) Genome mutation (numerical a.)
2) Chromosomal mutation (structural a.)
3) Gene mutation

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26
Q

Genome mutation

A

Change in chromosome number
Aneuploidy
Euploidy

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27
Q

Aneploidy

A

Change of number of individual chromosome
Can lead to syndroms
Caused by nondisjunction of chromosomes in meiosis

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28
Q

Euploidy

A

Change of chromosome sets

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29
Q

Chromosomal mutation

A

Change in structure of chromosome

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30
Q

Gene mutation

A

Change in genes, nucleotides or their order

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31
Q

Down syndrome

A

Trisomy-21

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32
Q

Edwards syndrome

A

Trisomy-18

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33
Q

Patau syndrome

A

Trisomy-13

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34
Q

Turner syndrome

A

Monosomy of chromosome X

FEMALES

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35
Q

Klinefelter syndrome

A

Extra chromosome X

MALES

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36
Q

Metamale (Jacob syndrome)

A

Extra chromosome Y

MALES

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37
Q

Metafemale

A

Extra chromosome X

FEMALES

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38
Q

Deletion

A

Part of chromosome is deleted

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39
Q

Interstitial deletion

A

Inside of chromosome

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40
Q

Terminal deletion

A

At the end of chromosome

41
Q

Cry of the cat

A

Deletion of small portion of chromosome 5

42
Q

Duplication

A

Part of chromosome if duplication

43
Q

Fragile X

A

Duplication
X chromosome is fragile at one end
700 repeats instead of normal 29

44
Q

Insertion

A

Part of one chromosome is inserted in other chromosome

45
Q

Translocation

A

Part of 1 chromosome is translocated to other chromosome

46
Q

Reciprocal translocation

A

Parts of 2 chromosomes are mutually translocated

47
Q

Inversion

A

Changeover of segment in chromosome

48
Q

Examples of sex differentitation

A

1) Influenced by temperature in environment

2) Different sex chromosomes inf emale and male

49
Q

Human chromosome X

A

More than 153mill. bp
Gene-poor region
2000 genes
Mutations = X-linked genetic disorders

50
Q

Human chromosome Y

A

58mill. bp
86 genes
Gene SRY - testis development
Holandric inheritance

51
Q

Origin of Y chromosome

A

X & Y chromosomes diverged 300 mill. years ago from a pair of autosomes in ancestral mammals
Genes beneficial for males & harmful to females developed on Y chromosome/were acquired by translocation
Y chromosome can not recombine with X chromosome, except pseudoautosomal regions at the telomeres

52
Q

Barr Body

A

X inactivation of X chromosome

53
Q

Process of X inactivation

A

Lyonization

54
Q

Genetics

A

Science of heredity & variation in living organisms

55
Q

Parts of genetics

A

Molecular
Classical
Population

56
Q

Molecular genetics

A

Structure & replication of DNA & gene expression on molecular level

57
Q

Classical Genetics

A

Transfer of trait from 1 generation to the other one

  • Mendelian inheritance
  • Non-mendelian inheritance
  • Heritability of quantitative trait
58
Q

Population genetics

A

Variation in genes (traits) in 1 population or between more populations

59
Q

Mendelian inheritance

A

Principles relating to transmission of hereditary characteristics from parents to their progeny (offspring)

60
Q

Mendelian inheritance - OBJECT OF STUDY

A

Heritability of qualitative trait of individuum

61
Q

Mendelian inheritance includes

A

Mendelian principles
Gene interactions
Genetic linkage
Sex-linked traits

62
Q

Gene expression

A

Expression of gene (part of DNA) through transcription & translation

63
Q

Proteins

A

Have certain functions ( thus participate on certain trait

64
Q

Proteins examples

A

1) Gene for flower color = expresses into protein, that has function of enzyme, that catalyzes synthesis of certain flower colour
2) Gene for blood type = expresses into proteinpresent on surface of erythrocytes & thus influences blood type

65
Q

Trait

A

Feature of an organism

66
Q

Phenotype

A

Synonym of trait = indicate the state of trait

Complex of traits in organisms produced by genotype

67
Q

Qualitative trait

A

Monogenetic inheritance - trait is influenced by single major gene
Phenotype falls into different categories

68
Q

Quantitative traits

A

Interactions between 2 or mores minor genes & their environment
Phenotypes varies in degrees

69
Q

Gene

A

Unit of inheritance

Encodes 1 protein or tRNA & rRNA

70
Q

Allele

A

Concrete form of a gene

71
Q

Locus

A

Fixed position of gene on chromosome

72
Q

Genotype

A

Genetic constitution of organism with respect to trait

73
Q

Homozygous

A

2 alleles of certain gene carried by individual are the same

74
Q

Heterozygous

A

2 alleles of certain gene carried by individual are different

75
Q

Autosomal

A

Locus on not sex-linked chromosome (autosome)

76
Q

Gonosomal

A

Locus on sex-linked chromosome (gonosome)

77
Q

P generation

A

Generation of parents, that are different homozygous (dominant & recessive)

78
Q

F1 generation

A

1st generation of uniform offspring, result of crossing of P generation

79
Q

F2 generation

A

2nd generation of offspring, result crossing of 2 individuals of F1 generation

80
Q

B1 generation (back crossing)

A

1st generation of back crossing (individuals of P & F1 generations)

81
Q

Hybrid

A

Heterozygous; usually offspring of 2 different homozygous individuals in the certain trait

82
Q

Monohybrid cross

A

Cross involving parents differing in 1 studied trait

83
Q

Dihybrid cross

A

Cross involving parents differing in 2 traits

84
Q

Polyhybrid cross

A

Cross involving parents differing in MORE traits

85
Q

MENDELIAN LAWS

A

Principle of…

1) Uniformity of F1 hybrids
2) Identity of reciprocal crosses
3) Segregation
4) Independent Assortment

86
Q

Principle of uniformity of F1 hybrids

A

Because parents are different homozygotes

87
Q

Principle of identity of reciprocal crosses

A

Because gene is located on autosome (there is not difference in sex)

88
Q

Principle of segregation

A

For any trait (gene), 2 alleles of 1 gene do not mix hybrid & subsequently segregate during gametogenesis
Only 1 allele from each parent passes on to gamete & subsequently to an offspring
Which allele of a parent’s pair of alleles is inherited is a matter of chance

89
Q

Principle of independent assortment

A

Pairs of alleles of diff. genes are passed to offspring independently of each other -> new combinations of genes present in neither parent, are possible
Because genes for independently assorted traits are located on different chromosomes

90
Q

Mendelian principles hold true in the following conditions

A

1) Monogenic inheritance
2) Autosomal inheritance
3) Genes are located on diff. chromosome pairs

91
Q

Monogenic inheritance

A

1 gene encoded 1 trait

92
Q

Autosomal inheritance

A

Genes encoding traits are located on autosomes

93
Q

Dominant allele

A

Allele (trait) that is expressed preferentially over the 2nd allele (trait) - functional form

94
Q

Recessive allele

A

Allele (trait) that is expressed only if the 2nd allele is the same - non functional form

95
Q

Relation between alleles

A

Complete dominance
Incomplete dominance
Co-dominant alleles

96
Q

Complete dominance

A

Heterozygotes has the same phenotype as dminant homozygous

97
Q

Incomplete dominance

A

Heterozygotes has different phenotype than homozygotes

98
Q

Co-dominant alleles

A

2 different alleles of 1 gene are responsible for different phenotypes (blood groups)

99
Q

Punnet Square

A

Determine probability of offspring having particular genotype

Biology Exam (14 decks)

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